A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559789



Internal ID332812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13021839..13021890hg38UCSC Ensembl
chr8:12879348..12879399hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17007446
Samples
Known GenesKIAA1456
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559789
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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